Two functional variants of the superoxide dismutase genes in Finnish families with asthma

Abstract

Background: Functional polymorphisms in the genes encoding superoxide dismutases (SOD)-that is, superoxide scavenging antioxidant enzymes-may play an important role in the development of inflammatory airway diseases such as asthma. Methods: The allele frequencies of two missense polymorphisms of SOD genes (Ala16Val in MnSOD (SOD2) and Arg213Gly in ECSOD (SOD3)) were investigated in Finnish patients with asthma and compared with family based controls. Both variants have been shown to be functionally interesting in the lung. The polymorphism at the exon-intron 3 boundary of a third SOD, CuZnSOD (SOD1), was also included in the analysis. Results: None of the SOD genetic variants studied appeared to be major genetic regulators in the development of asthma. We could exclude all models of inheritance that increased the risk of asthma more than 1.2 fold for MnSOD*Val (frequency of allele 0.74 in the population) and more than 6.6 fold for ECSOD*Gly213 (frequency of allele 0.03 in the population) compared with non-carriers. For the intronic polymorphism in CuZnSOD, a relative risk of more than 3.3 (frequency of allele 0.10 in the population) could be excluded. Conclusions: It is highly unlikely that the functionally important genetic variants Ala16Val and Arg213Gly of SODs play a major role in the genetic susceptibility of asthma.

Gene Polymorphisms of Tumor Necrosis Factor Alpha and Antioxidant Enzymes in Bronchial Asthma

“…Our results show that the distribution of the MnSOD 16Ala allele is 69.5% in a Serbian population. Some of the previous studies did not confirm the assumption that the MnSOD Ala16Val polymorphism is a predisposing factor for bronchial asthma [14][15][16][17]. Nevertheless, the possibility that, together with other defects in the antioxidant defense system, SOD genes may become significant in inflammatory airway diseases associated with oxidant stress, is not excluded.…”

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

“…Given these observations, it is perhaps not surprising that this genetic variant was not found to be associated with asthma where smoking is much less prevalent and different pathological processes are implicated. 31 Of interest is the results of a genome wide scan of pulmonary function (specifically FEV 1 /FVC) that identified a locus on chromosome 4 (D4S403 and D4S1511), a region that includes the gene encoding extracellular SOD (chromosome 4p16.3). 34 We have previously described, in a subset of the cohorts used in this study, a functional polymorphism in the gene encoding transforming growth factor-b 1 , another protein thought to modulate inflammatory processes in the lung that also appears to confer a protective effect in smokers.…”

Effects of oral contraception with ethinylestradiol and drospirenone on oxidative stress in women 18–35 years old

“…The mechanisms by which the physiological and environmental factors as well as the lifestyle and food habits act on the state of OS are complex and influenced by genetic factors such as the polymorphism of genes coding for proteins having pro-oxidant activities (myeloperoxidase-MPO-, the receptor of the type 1 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 angiotensin) or antioxidant activities (Cu/ZnSOD, MnSOD, ecSOD, PON-1, GPX, etc.) [61][62][63][64].…”